Genopathy
Gene-Disorder Association · Article
Gene
AIFM1
Apoptosis Inducing Factor Mitochondria Associated 1
Disorder
X-Linked Deafness 5
First reported 2006
Supporting publications 2
Key publication · disorder AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.Journal of medical genetics · 2006
Manually curated
Association Review

In brief

The association between AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1) and X-Linked Deafness 5 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 36
Symptoms 1
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
AIFM1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
X-Linked Deafness 5

The disorder

3 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

36 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

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